Gene Gene information from NCBI Gene database.
Entrez ID 25945
Gene name Nectin cell adhesion molecule 3
Gene symbol NECTIN3
Synonyms (NCBI Gene)
CD113CDW113NECTIN-3PPR3PRR3PVRL3PVRR3
Chromosome 3
Chromosome location 3q13.13
Summary This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regu
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs79006549 A>C,G Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
26
miRTarBase ID miRNA Experiments Reference
MIRT450740 hsa-miR-548n PAR-CLIP 22100165
MIRT450739 hsa-miR-548a-5p PAR-CLIP 22100165
MIRT450738 hsa-miR-548ab PAR-CLIP 22100165
MIRT450737 hsa-miR-548ad-5p PAR-CLIP 22100165
MIRT450736 hsa-miR-548ae-5p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0002089 Process Lens morphogenesis in camera-type eye IEA
GO:0005515 Function Protein binding IPI 19011627, 21982860, 22902367, 23758976, 25416956, 31515488, 32296183, 32814053, 33961781
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607147 17664 ENSG00000177707
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQS3
Protein name Nectin-3 (CDw113) (Nectin cell adhesion molecule 3) (Poliovirus receptor-related protein 3) (CD antigen CD113)
Protein function Cell adhesion molecule that promotes cell-cell adhesion through heterophilic trans-interactions with nectins-like or other nectins, such as trans-interaction with NECTIN2 at Sertoli-spermatid junctions (PubMed:16216929). Trans-interaction with P
PDB 4FOM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 61 167 Immunoglobulin V-set domain Domain
PF08205 C2-set_2 173 257 CD80-like C2-set immunoglobulin domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in testis and placenta as well as in many cell lines, including epithelial cell lines. {ECO:0000269|PubMed:11024295}.
Sequence
MARTLRPSPLCPGGGKAQLSSASLLGAGLLLQPPTPPPLLLLLFPLLLFSRLCGALAGPI
IVEPHVTAVWGKNVSLKCLIEVNETITQISWEKIHGKSSQTVAVHHPQYGFSVQGEYQGR
VLFKNYSLNDATITLHNIGFSDSGKYICKAVTFPLGNAQSSTTVTVL
VEPTVSLIKGPDS
LIDGGNETVAAICIAATGKPVAHIDWEGDLGEMESTTTSFPNETATIISQYKLFPTRFAR
GRRITCVVKHPALEKDI
RYSFILDIQYAPEVSVTGYDGNWFVGRKGVNLKCNADANPPPF
KSVWSRLDGQWPDGLLASDNTLHFVHPLTFNYSGVYICKVTNSLGQRSDQKVIYISDPPT
TTTLQPTIQWHPSTADIEDLATEPKKLPFPLSTLATIKDDTIATIIASVVGGALFIVLVS
VLAGIFCYRRRRTFRGDYFAKNYIPPSDMQKESQIDVLQQDELDSYPDSVKKENKNPVNN
LIRKDYLEEPEKTQWNNVENLNRFERPMDYYEDLKMGMKFVSDEHYDENEDDLVSHVDGS
VISRREWYV
Sequence length 549
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental cataract Conflicting classifications of pathogenicity rs79006549 RCV000490767
NECTIN3-related disorder Benign; Conflicting classifications of pathogenicity; Likely benign rs3733174, rs139530035, rs79006549, rs145238359, rs193104048, rs150017735, rs146315231, rs375756370, rs143896077, rs369337016, rs144247865, rs146210788, rs200790665, rs199677974 RCV003921285
RCV003976020
RCV004757980
RCV003929850
RCV003903826
RCV003909731
RCV003909760
RCV003941848
RCV003907299
RCV003914644
RCV003956900
RCV003921992
RCV003934300
RCV003969045
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30469078
Breast Neoplasms Associate 24386110, 37643511
Calcinosis Cutis Inhibit 24386110
Colorectal Neoplasms Associate 26177744
Colorectal Neoplasms Inhibit 37958883
Lymphatic Metastasis Associate 18084611
Lymphatic Vessel Tumors Associate 18084611
Nasopharyngeal Carcinoma Associate 33038291
Neoplasm Metastasis Associate 24386110, 26177744, 37958883
Neoplasms Associate 26177744, 37244912